{"orpha":79361,"name":"Inherited epidermolysis bullosa","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Epidermolysis bullosa hereditaria","Hereditary epidermolysis bullosa"],"definition":"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79361/","orphanet_url":"https://www.orpha.net/en/disease/detail/79361","names":{"fr":{"name":"Epidermolyse bulleuse héréditaire","definition":"L'épidermolyse bulleuse héréditaire (EBH) englobe un groupe de maladies caractérisé par la formation récurrente de bulles due à une fragilité épidermique et tissulaire structurelles."},"de":{"name":"Epidermolysis bullosa, hereditäre","definition":"Die erbliche Epidermolysis bullosa (EB) umfasst eine Gruppe von Krankheiten mit rezidivierender Blasenbildung als Folge einer strukturellen Brüchigkeit der Haut und anderer Gewebe."},"es":{"name":"Epidermólisis ampollosa hereditaria","synonyms":["Epidermólisis bullosa hereditaria"],"definition":"La epidermolisis ampollosa hereditaria (EA) agrupa una serie de trastornos caracterizados por la formación recurrente de ampollas como resultado de una fragilidad estructural de la piel y de otros tejidos seleccionados."},"it":{"name":"Epidermolisi bollosa ereditaria","definition":"L'epidermolisi bollosa (EB) ereditaria comprende diverse malattie caratterizzate dalla formazione ricorrente di bolle, causate dalla fragilità strutturale della cute e di altri tessuti."},"nl":{"name":"Overgeërfde epidermolysis bullosa","synonyms":["Epidermolysis bullosa hereditaria","Erfelijke epidermolysis bullosa"],"definition":"Overgeërfde epidermolysis bullosa (EB) omvat een aantal aandoeningen gekenmerkt door terugkerende blaarvorming als gevolg van structurele fragiliteit in de huid en geselecteerde andere weefsels."},"pt":{"name":"Epidermólise bolhosa hereditária","definition":"A epidermólise bolhosa hereditária (EB) engloba determinadas doenças caracterizadas pela formação de bolhas recorrentes e que resultam da fragilidade estrutural da pele e de outros tecidos em particular."},"pl":{"name":"Dziedziczne pęcherzowe oddzielanie się naskórka","synonyms":["Dziedziczne pęcherzowe oddzielanie się naskórka","Epidermolysis bullosa hereditaria"]},"cs":{"name":"Dědičná epidermolysis bullosa","synonyms":["Epidermolysis bullosa hereditaria","Hereditární epidermolysis bullosa"],"definition":"Dědičná epidermolysis bullosa (EB) neboli nemoc motýlích křídel představuje řadu poruch typických opakovanou tvorbou puchýřů v důsledku strukturní nestability kůže a dalších tkání."},"uk":{"name":"Спадковий бульозний епідермоліз","synonyms":["Спадковий бульозний епідермоліз","Спадковий бульозний епідермоліз"],"definition":"Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues."},"zh":{"name":"遗传性大疱性表皮松解症","synonyms":["遗传性大疱性表皮松解症"]},"tr":{"name":"Kalıtsal epidermolizis bülloza","synonyms":["Kalıtsal epidermolizis bülloza","Epidermolizis bülloza hereditaria"]}},"xrefs":[{"source":"MONDO","code":"0019276","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274224","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":263676,"name":"OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79353,"name":"Epidermal disease","classifications":[187]},{"orpha":183426,"name":"Genetic epidermal disorder","classifications":[156]}],"children":[{"orpha":303,"name":"Dystrophic epidermolysis bullosa","type":"Clinical group"},{"orpha":304,"name":"Epidermolysis bullosa simplex","type":"Clinical group"},{"orpha":305,"name":"Junctional epidermolysis bullosa","type":"Clinical group"},{"orpha":2908,"name":"Kindler epidermolysis bullosa","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Europe","status":"Validated","source":"20507631[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.96,"area":"Croatia","status":"Validated","source":"2359725[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"United States","status":"Validated","source":"20507631[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"United States","status":"Validated","source":"20507631[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Europe","status":"Validated","source":"20507631[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.59,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":null}